Canonical Allele Identifier: CA490917643
Gene: SMAD3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.67479770C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.67187432C>G , CM000677.2:g.67187432C>G GRCh38
NC_000015.9:g.67479770C>G , CM000677.1:g.67479770C>G GRCh37
NC_000015.8:g.65266824C>G NCBI36
NG_011990.1:g.126576C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000558428.6:c.492C>G ENSP00000454165.2:p.Gly164=
ENST00000558739.2:c.762C>G ENSP00000453684.2:p.Gly254=
ENST00000558827.2:c.492C>G ENSP00000452767.2:p.Gly164=
ENST00000559460.6:c.762C>G ENSP00000453082.2:p.Gly254=
ENST00000560424.2:c.1188C>G ENSP00000455540.2:p.Gly396=
ENST00000327367.9:c.1077C>G MANE Select ENSP00000332973.4:p.Gly359=
ENST00000679624.1:c.762C>G ENSP00000505445.1:p.Gly254=
ENST00000680689.1:n.780C>G
ENST00000681239.1:c.762C>G ENSP00000505641.1:p.Gly254=
ENST00000327367.8:c.1077C>G ENSP00000332973.4:p.Gly359=
ENST00000439724.7:c.945C>G ENSP00000401133.3:p.Gly315=
ENST00000537194.6:c.492C>G ENSP00000445348.2:p.Gly164=
ENST00000540846.6:c.762C>G ENSP00000437757.2:p.Gly254=
ENST00000558763.1:n.771C>G
ENST00000558894.5:c.624C>G ENSP00000458060.1:p.Gly208=
ENST00000560402.1:n.283-5441C>G
ENST00000560424.1:c.269C>G
NM_001145102.1:c.762C>G NP_001138574.1:p.Gly254=
NM_001145103.1:c.945C>G NP_001138575.1:p.Gly315=
NM_001145104.1:c.492C>G NP_001138576.1:p.Gly164=
NM_005902.3:c.1077C>G NP_005893.1:p.Gly359=
XM_011521559.1:c.945C>G XP_011519861.1:p.Gly315=
XM_011521560.1:c.930C>G XP_011519862.1:p.Gly310=
XM_011521559.3:c.945C>G XP_011519861.1:p.Gly315=
NM_005902.4:c.1077C>G MANE Select NP_005893.1:p.Gly359=
NM_001145102.2:c.762C>G NP_001138574.1:p.Gly254=
NM_001145103.2:c.945C>G NP_001138575.1:p.Gly315=
NM_001145104.2:c.492C>G NP_001138576.1:p.Gly164=